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rs727504327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504327(A;A)
Make rs727504327(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154413544
GeneDNASE1L1, TAZ
is asnp
is mentioned by
dbSNPrs727504327
dbSNP (classic)rs727504327
ClinGenrs727504327
ebirs727504327
HLIrs727504327
Exacrs727504327
Gnomadrs727504327
Varsomers727504327
LitVarrs727504327
Maprs727504327
PheGenIrs727504327
Biobankrs727504327
1000 genomesrs727504327
hgdprs727504327
ensemblrs727504327
geneviewrs727504327
scholarrs727504327
googlers727504327
pharmgkbrs727504327
gwascentralrs727504327
openSNPrs727504327
23andMers727504327
SNPshotrs727504327
SNPdbers727504327
MSV3drs727504327
GWAS Ctlgrs727504327
Max Magnitude0
ClinVar
Risk rs727504327(A;A)
Alt rs727504327(A;A)
Reference Rs727504327(G;G)
Significance Probable-Pathogenic
Disease 3-Methylglutaconic aciduria type 2
Variation info
Gene TAZ DNASE1L1
CLNDBN 3-Methylglutaconic aciduria type 2
Reversed 0
HGVS NC_000023.10:g.153641881G>A
CLNSRC
CLNACC RCV000154422.1,